Ghezzi, 2015: Overview of all reported PxMD-PNKD patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
n.a.
|
Trigger: Stress
Chorea Attacks – bilateral Trigger: Caffeine Attacks at rest Dystonia Speech disturbance Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
7
|
n.a.
|
n.a.
|
||
No
|
♂
|
n.a.
|
n.a.
|
15
|
n.a.
|
n.a.
|
Speech disturbance
Athetosis Attacks – bilateral Trigger: Stress Trigger: Caffeine Chorea Trigger: Alcohol Attacks at rest Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
n.a.
|
Attacks at rest
Attacks – bilateral Trigger: Stress Attacks - face Dystonia Chorea Trigger: Caffeine Athetosis Attacks - neck Show more (+6) |
n.a.
|